Journal of Oral Science Research ›› 2024, Vol. 40 ›› Issue (9): 837-839.DOI: 10.13701/j.cnki.kqyxyj.2024.09.015

Previous Articles     Next Articles

A Case of Polyostotic Fibrous Dysplasia with a New Missense Mutation in GNAS

ZHANG Lanlan, WANG Weihong*   

  1. Department of Oral and Maxillofacial Surgery, Affiliated Stomatology Hospital of Kunming Medical University, Kunming 650106, China
  • Received:2023-12-08 Online:2024-09-28 Published:2024-09-25

Abstract: We report a case of fibrous dysplasia with a new missense mutation in GNAS (NM_016592.5; Exon 1/13; c.517G>C). Gene mutations in this site are not reported in fibrous dysplasia patients. Polyostotic fibrous dysplasia is diagnosed by the combination of imaging and clinical results, histopathological analysis, and the whole exon gene test.

Key words: polyostotic fibrous dysplasia, GNAS gene, gene mutation